Genetics of nephrotic syndrome: connecting molecular genetics to podocyte physiology
Open Access
- 6 October 2009
- journal article
- review article
- Published by Oxford University Press (OUP) in Human Molecular Genetics
- Vol. 18 (R2), R185-R194
- https://doi.org/10.1093/hmg/ddp328
Abstract
Urinary losses of macromolecules in nephrotic syndrome (NS) reflect a dysfunction of the highly permselective glomerular filtration barrier. Genetic studies of hereditary forms of NS have led to the identification of proteins playing a crucial role in slit-diaphragm signalling, regulation of actin cytoskeleton dynamics, maintenance of podocyte integrity and cell–matrix interactions. This review will focus on recent molecular and clinical findings in the field of genetics of NS, thereby providing a better understanding of the complex glomerular filtration barrier physiology.This publication has 94 references indexed in Scilit:
- Exclusion of homozygous PLCE1 (NPHS3) mutations in 69 families with idiopathic and hereditary FSGSPediatric Nephrology, 2009
- MYH9 is associated with nondiabetic end-stage renal disease in African AmericansNature Genetics, 2008
- MYH9 is a major-effect risk gene for focal segmental glomerulosclerosisNature Genetics, 2008
- Neph-Nephrin Proteins Bind the Par3-Par6-Atypical Protein Kinase C (aPKC) Complex to Regulate Podocyte Cell PolarityPublished by Elsevier BV ,2008
- Array-Based Gene Discovery with Three Unrelated Subjects Shows SCARB2/LIMP-2 Deficiency Causes Myoclonus Epilepsy and GlomerulosclerosisAmerican Journal of Human Genetics, 2008
- Disease-associated mutant α-actinin-4 reveals a mechanism for regulating its F-actin-binding affinityProceedings of the National Academy of Sciences of the United States of America, 2007
- Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversibleNature Genetics, 2006
- A common mechanism underlies stretch activation and receptor activation of TRPC6 channelsProceedings of the National Academy of Sciences of the United States of America, 2006
- TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal functionNature Genetics, 2005
- Positionally Cloned Gene for a Novel Glomerular Protein—Nephrin—Is Mutated in Congenital Nephrotic SyndromeMolecular Cell, 1998